{
    "disease_id": "DOID:0080058",
    "recommended_name": {
        "id": "DOID:0080058",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080058",
        "name": "autosomal recessive spinocerebellar ataxia 14",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080058",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080058",
            "name": "SCAR14",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "autosomal recessive spinocerebellar ataxia 14",
            "description": "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)."
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "Ataxie spinocrbelleuse  dbut infantile avec retard psychomoteur",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "SCAR14",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "SPARCA",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "SPARCA1",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "SPTBN2 autosomal recessive cerebellar ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "autosomal recessive cerebellar ataxia-cognitive defect syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "autosomal recessive spinocerebellar ataxia type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "infantile-onset spinocerebellar ataxia-psychomotor delay syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "spectrin-associated autosomal recessive cerebellar ataxia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "spinocerebellar ataxia, autosomal recessive type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "name": "spinocerebellar ataxia, autosomal recessive 14",
            "description": ""
        },
        {
            "id": "MIM:615386",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615386",
            "name": "Spinocerebellar ataxia, autosomal recessive, 14",
            "description": "Spinocerebellar ataxia, autosomal recessive, 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080058"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080058",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080058",
            "categories": []
        },
        {
            "id": "MONDO:0014159",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014159",
            "categories": []
        },
        {
            "id": "MIM:615386",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615386",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TRJ9-1",
            "uniprot_ac": "A0AB32TRJ9",
            "uniprot_id": "A0AB32TRJ9_DANRE",
            "refseq_ac": "XP_068077312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "spectrin family protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sptbn2",
                    "type": "recommended"
                },
                {
                    "name": "fb48h06",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-99p10.2",
                    "type": "synonym"
                },
                {
                    "name": "sptbn2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb48h06",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TRJ9-1",
            "evidence": [
                {
                    "id": "0080058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15020-1",
            "uniprot_ac": "O15020",
            "uniprot_id": "SPTN2_HUMAN",
            "refseq_ac": "NP_008877",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain, non-erythrocytic 2",
                    "type": "recommended"
                },
                {
                    "name": "Beta-III spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Spinocerebellar ataxia 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "beta-III spectrin",
                    "type": "synonym"
                },
                {
                    "name": "glutamate transporter EAAT4-associated protein 41",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta III sigma 2",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, brain 2",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, non-erythrocytic 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin beta chain, non-erythrocytic 2",
                    "type": "synonym"
                },
                {
                    "name": "spectrin, non-erythroid beta chain 2",
                    "type": "synonym"
                },
                {
                    "name": "spinocerebellar ataxia 5 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPTBN2",
                    "type": "recommended"
                },
                {
                    "name": "GTRAP41",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0302",
                    "type": "synonym"
                },
                {
                    "name": "SCA5",
                    "type": "synonym"
                },
                {
                    "name": "SCAR14",
                    "type": "synonym"
                },
                {
                    "name": "SPTBN2",
                    "type": "synonym"
                }
            ],
            "record_id": "O15020-1",
            "evidence": [
                {
                    "id": "615386",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615386"
                },
                {
                    "id": "0080058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QWN8-1",
            "uniprot_ac": "Q9QWN8",
            "uniprot_id": "SPTN2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain, non-erythrocytic 2",
                    "type": "recommended"
                },
                {
                    "name": "Beta SpIII sigma 1",
                    "type": "synonym"
                },
                {
                    "name": "Beta-III spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate transporter EAAT4-associated protein 41",
                    "type": "synonym"
                },
                {
                    "name": "SPNB-3",
                    "type": "synonym"
                },
                {
                    "name": "Spectrin-like protein GTRAP41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sptbn2",
                    "type": "recommended"
                },
                {
                    "name": "Spnb3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QWN8-1",
            "evidence": [
                {
                    "id": "0080058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080058"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00963-1",
            "uniprot_ac": "Q00963",
            "uniprot_id": "SPTCB_DROME",
            "refseq_ac": "NP_523388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spectrin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "CG5870-PA",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-1B3",
                    "type": "synonym"
                },
                {
                    "name": "beta spectrin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "beta spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-III-Spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-Spec-PA",
                    "type": "synonym"
                },
                {
                    "name": "beta-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "karussell",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "beta-Spec",
                    "type": "recommended"
                },
                {
                    "name": "B-spec",
                    "type": "synonym"
                },
                {
                    "name": "CG5870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5870",
                    "type": "synonym"
                },
                {
                    "name": "SPEC8",
                    "type": "synonym"
                },
                {
                    "name": "Spec-beta",
                    "type": "synonym"
                },
                {
                    "name": "Spec-b",
                    "type": "synonym"
                },
                {
                    "name": "Specbeta",
                    "type": "synonym"
                },
                {
                    "name": "Spectrin",
                    "type": "synonym"
                },
                {
                    "name": "Spec",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe1B3",
                    "type": "synonym"
                },
                {
                    "name": "b spectrin",
                    "type": "synonym"
                },
                {
                    "name": "b-Spec",
                    "type": "synonym"
                },
                {
                    "name": "beta-Spec",
                    "type": "synonym"
                },
                {
                    "name": "beta-spectrin",
                    "type": "synonym"
                },
                {
                    "name": "beta-spec",
                    "type": "synonym"
                },
                {
                    "name": "betaHeavy-Spec",
                    "type": "synonym"
                },
                {
                    "name": "betaSpec",
                    "type": "synonym"
                },
                {
                    "name": "betaspec",
                    "type": "synonym"
                },
                {
                    "name": "beta",
                    "type": "synonym"
                },
                {
                    "name": "i168",
                    "type": "synonym"
                },
                {
                    "name": "i6",
                    "type": "synonym"
                },
                {
                    "name": "kus",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0074",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0108",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0198",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00963-1",
            "evidence": [
                {
                    "id": "0080058",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080058"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080058"
}